Epidermolysis bullosa with congenital absence of skin: Review of the literature

Pediatric Dermatology
Adrian Martinez-MorenoErika Alba-Rojas

Abstract

Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnormalities, and epidermolysis bullosa (EB). Further reports of patients with CAS and EB have been made with wide clinical heterogeneity among them. Current guidelines recommend the elimination of eponyms and use of the descriptive term EB with CAS. We performed a PubMed and Medline database search of patients with Bart syndrome or EB with CAS. We included case reports or case series that contained clinical and demographic information. After review, 55 articles were included, reporting 96 patients. CAS involved the lower extremities in all patients, with additional upper limb, trunk, or head involvement in 17%. In all patients, the time to healing ranged from 2 weeks to 6 months; most received only conservative treatment. The subtype and frequency of associated EB most frequently reported were recessive dystrophic EB (41.4%) and dominant dystrophic EB (22.8%). Extracutaneous features were present in 29 patients; with pyloric atresia and ear malformations being the most common. The prognosis varied based on the subtype of EB and the presence of additional comorbidities; 50% of the patients with junctional EB with pyloric atresia and ...Continue Reading

References

Aug 1, 1992·Archives of Dermatology·M H KanzlerD T Woodley
Jul 1, 1991·International Journal of Dermatology·M A McCarthyF C Powell
Feb 1, 1987·American Journal of Medical Genetics·G VivonaA Vendemiati
Mar 1, 1982·American Journal of Medical Genetics·R CarmiJ Bar-Ziv
Apr 1, 1983·The British Journal of Dermatology·F T WojnarowskaR S Wells
Jan 1, 1982·Acta paediatrica Scandinavica·J A CowtonF Cockburn
Jun 1, 1996·The Journal of Investigative Dermatology·A M ChristianoJ Uitto
Feb 1, 1997·Journal of the American Academy of Dermatology·D W ShawL F Eichenfield
Sep 18, 1999·Annals of Plastic Surgery·C OzekE Songur
Apr 29, 2000·Pediatric Surgery International·A NawazA Al-Salem
Jul 20, 2002·The Journal of Dermatology·Hüseyin Caksen, Selim Kurtoglu
Dec 16, 2003·Skinmed·Cristiane BenvenutoTania F Cestari
Oct 11, 2005·American Journal of Perinatology·Bruce J Bart, Richard C Lussky
Dec 13, 2006·Pediatric Dermatology·Soledad Martinez-RegueiraMiguel A Gonzalez-Gay
Dec 19, 2006·Actas dermo-sifiliográficas·J M CasanovaJ M Mascaró
Apr 4, 2008·The Journal of Investigative Dermatology·Tracy WongJohn A McGrath
Jan 1, 2008·Indian Journal of Dermatology·Aruna RajpalN Nagpur
Mar 26, 2010·Fetal and Pediatric Pathology·Melek AkarLevent Sirvan
May 14, 2010·Anais Brasileiros De Dermatologia·Nadia Aparecida Pereira de AlmeidaJulie Gomes Del Moro
May 15, 2010·International Journal of Dermatology·Abdullah Denizmen AygunIbrahim Ozercan
May 22, 2010·Case Reports in Medicine·Samet Vasfi Kuvat, Mehmet Bozkurt
Mar 5, 2013·International Journal of Dermatology·Aristóteles RosmaninhoManuela Selores
Jul 9, 2013·Pediatric Radiology·Arnold C MerrowAnne W Lucky
Nov 21, 2013·The British Journal of Dermatology·C ChiaveriniJ-P Lacour
Apr 3, 2014·Journal of the American Academy of Dermatology·Jo-David FineGiovanna Zambruno
Jul 26, 2014·The British Journal of Dermatology·A Martín-SantiagoJ A Hervás
Mar 24, 2015·Archives of Plastic Surgery·Dae Young KimSo Young Lim
Nov 27, 2015·Case Reports in Dermatological Medicine·Ferit KulalıSema Apaydın
Oct 17, 2017·Case Reports in Dermatology·Yasmin AlfayezAdel Santli
May 4, 2018·The Journal of Dermatology·Zhiming ChenHongsheng Wang
Dec 14, 2018·Fetal and Pediatric Pathology·Young Mi HanHyun-Chang Ko

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